Abstract：
:We conducted a genomewide linkage screen of a simple heavy-smoking quantitative trait, the maximum number of cigarettes smoked in a 24-h period, using two independent samples: 289 Australian and 155 Finnish nuclear multiplex families, all of which were of European ancestry and were targeted for DNA analysis by use of probands with a heavy-smoking phenotype. We analyzed the trait, using a regression of identity-by-descent allele sharing on the sum and difference of the trait values for relative pairs. Suggestive linkage was detected on chromosome 22 at 27-29 cM in each sample, with a LOD score of 5.98 at 26.96 cM in the combined sample. After additional markers were used to localize the signal, the LOD score was 5.21 at 25.46 cM. To assess the statistical significance of the LOD score in the combined sample, 1,000 simulated genomewide screens were conducted, resulting in an empirical P value of .006 for the LOD score of 5.21. This linkage signal is driven mainly by the microsatellite marker D22S315 (22.59 cM), which had a single-point LOD score of 5.41 in the combined sample and an empirical P value <.001 from 1,000 simulated genomewide screens. This marker is located within an intron of the gene ADRBK2, encoding the beta-adrenergic receptor kinase 2. Fine mapping of this linkage region may reveal variants contributing to heaviness of smoking, which will lead to a better understanding of the genetic mechanisms underlying nicotine dependence.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Saccone SF,Pergadia ML,Loukola A,Broms U,Montgomery GW,Wang JC,Agrawal A,Dick DM,Heath AC,Todorov AA,Maunu H,Heikkila K,Morley KI,Rice JP,Todd RD,Kaprio J,Peltonen L,Martin NG,Goate AM,Madden PAdoi
10.1086/513703subject
Has Abstractpub_date
2007-05-01 00:00:00pages
856-66issue
5eissn
0002-9297issn
1537-6605pii
S0002-9297(07)60941-0journal_volume
80pub_type
杂志文章abstract：:Gaucher disease (GD) is one of the most prevalent lysosomal storage disorders and one of the rare genetic diseases now accessible to therapy. Outside the Ashkenazi Jewish community, a high molecular diversity is observed, leaving approximately 30% of alleles undetected. Nevertheless, very few exhaustive methods have b...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/301969
更新日期：1998-08-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/381133
更新日期：2004-01-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2019.07.020
更新日期：2019-09-05 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1994-09-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1993-01-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1996-04-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1983-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/301899
更新日期：1998-07-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1991-05-01 00:00:00
abstract：:To determine the receptivity of prenatal care providers and their patients to carrier testing for cystic fibrosis (CF), we offered free carrier screening, followed by genetic counseling of carriers, to all prenatal care providers in Rochester, NY, for all their female patients of reproductive age, pregnant or not. Of ...
journal_title：American journal of human genetics
pub_type： 临床试验,杂志文章
doi：
更新日期：1996-07-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1975-01-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1993-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1993-08-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1980-09-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1985-07-01 00:00:00
abstract：:A matched case-control study of 100 mothers of Down syndrome children, 100 mothers of children with other defects (defect controls), and 100 mothers of children with no defects (normal controls) was carried out. All infants were born in upstate New York in 1980 and 1981. Matching was very close on maternal age for the...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1985-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1996-11-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1981-03-01 00:00:00
abstract：:Attention-deficit hyperactivity disorder (ADHD) affects approximately 3%-5% of children in the United States. In the current psychiatric nomenclature, ADHD comprises three subtypes: inattentive, hyperactive-impulsive, and combined. In this study, we used four analytic strategies to examine the association and linkage ...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/302132
更新日期：1998-12-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1993-05-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1981-03-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1987-04-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1986-01-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/503204
更新日期：2006-04-01 00:00:00
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journal_title：American journal of human genetics
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doi：10.1016/j.ajhg.2020.02.001
更新日期：2020-03-05 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/338625
更新日期：2002-02-01 00:00:00
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journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1016/j.ajhg.2009.04.010
更新日期：2009-05-01 00:00:00
abstract：:The opportunity raised by recombinant DNA technology to develop a linkage marker panel that spans the human genome requires cost-efficient strategies for its optimal utilization. Questions arise as to whether it is more cost-effective to convert a dimorphic restriction enzyme marker system into a highly polymorphic sy...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：
更新日期：1986-07-01 00:00:00
abstract：:In recent years, many genomewide screens have been performed, to identify novel loci predisposing to various complex diseases. Often, only a portion of the collected clinical data from the study subjects is used in the actual analysis of the trait, and much of the phenotypic data is ignored. With proper consent, these...
journal_title：American journal of human genetics
pub_type： 杂志文章
doi：10.1086/321286
更新日期：2001-07-01 00:00:00
